Detailed description page of humcfs
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Humcfs_2342 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_2342 |
| chromosome_number | chromosome8 |
| name | FRA8B |
| chrlocation | 93300001-99000000 |
| cytoband | 8q22.1 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000164953 |
| gene_name | TMEM67 |
| havana_transcript_id | OTTHUMT00000378408 |
| gene_location | 93785269-93795504 |
| gene_orientation | + |
| exon_id | ENSE00002126168, ENSE00003469218, ENSE00003553174, ENSE00003482226, ENSE00002120338, ENSE00003630971, ENSE00002093939 |
| exon_number | 7 |
| gene_description | transmembrane protein 67 |
| disease_description | Congenital Abnormality,Hepatic Fibrosis, Congenital,Liver diseases,Fibrosis, Liver,Cystic Kidney Diseases,Polydactyly,Autosomal Recessive Polycystic Kidney Disease,Congenital cerebral hernia,Meckel-Gruber syndrome,COACH syndrome,Nephronophthisis,Hydrocephalus,Oculomotor apraxia,Oculovestibuloauditory syndrome,Familial aplasia of the vermis,Pneumocystis jiroveci pneumonia,Liver Cirrhosis,Polycystic Kidney Diseases,POLYCYSTIC KIDNEY DISEASE 1,Bardet-Biedl Syndrome,Meckel syndrome type 3,Meckel syndrome type 1,NEPHRONOPHTHISIS 11,Congestive heart failure,JOUBERT SYNDROME 6 |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | FISH |
| PMID | 14562053 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |